Browsing by Author "Paramonov, Ida"

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  • de Boer, Elke; Ockeloen, Charlotte W.; Matalonga, Leslie; Horvath, Rita; Solve-RD SNV-indel working group; Rodenburg, Richard J.; Coenen, Marieke J.H.; Janssen, Mirian; Henssen, Dylan; Gilissen, Christian; Steyaert, Wouter; Paramonov, Ida; Solve-RD-DITF-ITHACA; Trimouille, Aurélien; Kleefstra, Tjitske; Verloes, Alain; Vissers, Lisenka E.L.M. (Nature Research, 2021)
    The genetic etiology of intellectual disability remains elusive in almost half of all affected individuals. Within the Solve-RD consortium, systematic re-analysis of whole exome sequencing (WES) data from unresolved cases ...
  • Kurul, Semra Hiz; Matalonga, Leslie; Paramonov, Ida; Laurie, Steven, 1973-; Beltran, Sergi; Lochmüller, Hanns; Horvath, Rita (Oxford University Press, 2021)
    Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and ...